| # | Title | Journal | Year | Citations |
|---|
| 1 | PLINK: A Tool Set for Whole-Genome Association and Population-Based Linkage Analyses | American Journal of Human Genetics | 2007 | 26,761 |
| 2 | A New Statistical Method for Haplotype Reconstruction from Population Data | American Journal of Human Genetics | 2001 | 6,952 |
| 3 | GCTA: A Tool for Genome-wide Complex Trait Analysis | American Journal of Human Genetics | 2011 | 6,212 |
| 4 | Construction of a genetic linkage map in man using restriction fragment length polymorphisms | American Journal of Human Genetics | 1980 | 5,146 |
| 5 | Genetics of Food Intake Self-Regulation in Childhood: Literature Review and Research Opportunities | Human Heredity | 2013 | 4,646 |
| 6 | Impact of Informing Overweight Individuals about the Role of Genetics in Obesity: An Online Experimental Study | Human Heredity | 2013 | 3,848 |
| 7 | Activators and target genes of Rel/NF-κB transcription factors | Oncogene | 1999 | 3,586 |
| 8 | A Comparison of Bayesian Methods for Haplotype Reconstruction from Population Genotype Data | American Journal of Human Genetics | 2003 | 3,291 |
| 9 | Average Risks of Breast and Ovarian Cancer Associated with BRCA1 or BRCA2 Mutations Detected in Case Series Unselected for Family History: A Combined Analysis of 22 Studies | American Journal of Human Genetics | 2003 | 3,105 |
| 10 | Multipoint Quantitative-Trait Linkage Analysis in General Pedigrees | American Journal of Human Genetics | 1998 | 2,887 |
| 11 | Rapid and Accurate Haplotype Phasing and Missing-Data Inference for Whole-Genome Association Studies By Use of Localized Haplotype Clustering | American Journal of Human Genetics | 2007 | 2,845 |
| 12 | Cisplatin: mode of cytotoxic action and molecular basis of resistance | Oncogene | 2003 | 2,838 |
| 13 | 10 Years of GWAS Discovery: Biology, Function, and Translation | American Journal of Human Genetics | 2017 | 2,793 |
| 14 | Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM) | American Journal of Human Genetics | 1993 | 2,787 |
| 15 | ON ESTIMATING THE RELATION BETWEEN BLOOD GROUP AND DISEASE | Annals of Human Genetics | 1955 | 2,680 |
| 16 | Genetic Heterogeneity and Penetrance Analysis of the BRCA1 and BRCA2 Genes in Breast Cancer Families | American Journal of Human Genetics | 1998 | 2,662 |
| 17 | MAP kinase signalling pathways in cancer | Oncogene | 2007 | 2,473 |
| 18 | Targeting the Raf-MEK-ERK mitogen-activated protein kinase cascade for the treatment of cancer | Oncogene | 2007 | 2,421 |
| 19 | Mendelian randomization: genetic anchors for causal inference in epidemiological studies | Human Molecular Genetics | 2014 | 2,402 |
| 20 | Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies | American Journal of Human Genetics | 2010 | 2,325 |
| 21 | Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction | American Journal of Human Genetics | 1989 | 2,299 |
| 22 | EMT, cancer stem cells and drug resistance: an emerging axis of evil in the war on cancer | Oncogene | 2010 | 2,263 |
| 23 | Parametric and nonparametric linkage analysis: a unified multipoint approach | American Journal of Human Genetics | 1996 | 2,255 |
| 24 | Five Years of GWAS Discovery | American Journal of Human Genetics | 2012 | 2,088 |
| 25 | Rare-Variant Association Testing for Sequencing Data with the Sequence Kernel Association Test | American Journal of Human Genetics | 2011 | 2,060 |
| 26 | Molecular mechanisms of cisplatin resistance | Oncogene | 2012 | 2,058 |
| 27 | The p53 pathway: positive and negative feedback loops | Oncogene | 2005 | 2,056 |
| 28 | Non-coding RNA | Human Molecular Genetics | 2006 | 2,052 |
| 29 | MALAT-1, a novel noncoding RNA, and thymosin β4 predict metastasis and survival in early-stage non-small cell lung cancer | Oncogene | 2003 | 1,986 |
| 30 | Wnt signaling in cancer | Oncogene | 2017 | 1,975 |
| 31 | Introduction to NF-κB: players, pathways, perspectives | Oncogene | 2006 | 1,948 |
| 32 | STATs in oncogenesis | Oncogene | 2000 | 1,944 |
| 33 | Diabetes mellitus: a "thrifty" genotype rendered detrimental by "progress"? | American Journal of Human Genetics | 1962 | 1,943 |
| 34 | PedCheck: A Program for Identification of Genotype Incompatibilities in Linkage Analysis | American Journal of Human Genetics | 1998 | 1,923 |
| 35 | Extrinsic versus intrinsic apoptosis pathways in anticancer chemotherapy | Oncogene | 2006 | 1,914 |
| 36 | The tumor microenvironment and its role in promoting tumor growth | Oncogene | 2008 | 1,869 |
| 37 | The Bcl-2 apoptotic switch in cancer development and therapy | Oncogene | 2007 | 1,847 |
| 38 | Association Mapping in Structured Populations | American Journal of Human Genetics | 2000 | 1,827 |
| 39 | Next-Generation DNA Sequencing Methods | Annual Review of Genomics and Human Genetics | 2008 | 1,788 |
| 40 | A Fast and Flexible Statistical Model for Large-Scale Population Genotype Data: Applications to Inferring Missing Genotypes and Haplotypic Phase | American Journal of Human Genetics | 2006 | 1,748 |
| 41 | Multifactor-Dimensionality Reduction Reveals High-Order Interactions among Estrogen-Metabolism Genes in Sporadic Breast Cancer | American Journal of Human Genetics | 2001 | 1,745 |
| 42 | MicroRNA-21 (miR-21) post-transcriptionally downregulates tumor suppressor Pdcd4 and stimulates invasion, intravasation and metastasis in colorectal cancer | Oncogene | 2008 | 1,719 |
| 43 | The DNA methyltransferases of mammals | Human Molecular Genetics | 2000 | 1,710 |
| 44 | Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion | Human Mutation | 2000 | 1,688 |
| 45 | Tumor suppressor p53 is a regulator of bcl-2 and bax gene expression in vitro and in vivo | Oncogene | 1994 | 1,667 |
| 46 | Score Tests for Association between Traits and Haplotypes when Linkage Phase Is Ambiguous | American Journal of Human Genetics | 2002 | 1,656 |
| 47 | Structural Variation of Chromosomes in Autism Spectrum Disorder | American Journal of Human Genetics | 2008 | 1,641 |
| 48 | PI3K pathway alterations in cancer: variations on a theme | Oncogene | 2008 | 1,621 |
| 49 | DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources | American Journal of Human Genetics | 2009 | 1,614 |
| 50 | Human Gene Mutation Database (HGMD®): 2003 update | Human Mutation | 2003 | 1,571 |
| 51 | REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants | American Journal of Human Genetics | 2016 | 1,555 |
| 52 | Neuregulin 1 and Susceptibility to Schizophrenia | American Journal of Human Genetics | 2002 | 1,550 |
| 53 | A General Model for the Genetic Analysis of Pedigree Data | Human Heredity | 1971 | 1,541 |
| 54 | Meta-analysis of genome-wide association studies for height and body mass index in ∼700000 individuals of European ancestry | Human Molecular Genetics | 2018 | 1,541 |
| 55 | Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation | Human Mutation | 2009 | 1,528 |
| 56 | A Simple Correction for Multiple Testing for Single-Nucleotide Polymorphisms in Linkage Disequilibrium with Each Other | American Journal of Human Genetics | 2004 | 1,523 |
| 57 | Quantitative Analysis of Fetal DNA in Maternal Plasma and Serum: Implications for Noninvasive Prenatal Diagnosis | American Journal of Human Genetics | 1998 | 1,512 |
| 58 | Defining the role of hypoxia-inducible factor 1 in cancer biology and therapeutics | Oncogene | 2010 | 1,506 |
| 59 | Functional Analysis of Genetic Variation in Catechol-O-Methyltransferase (COMT): Effects on mRNA, Protein, and Enzyme Activity in Postmortem Human Brain | American Journal of Human Genetics | 2004 | 1,495 |
| 60 | TGF-β and epithelial-to-mesenchymal transitions | Oncogene | 2005 | 1,491 |
| 61 | The inheritance of liability to certain diseases, estimated from the incidence among relatives | Annals of Human Genetics | 1965 | 1,490 |
| 62 | AP-1 in cell proliferation and survival | Oncogene | 2001 | 1,485 |
| 63 | Selecting a Maximally Informative Set of Single-Nucleotide Polymorphisms for Association Analyses Using Linkage Disequilibrium | American Journal of Human Genetics | 2004 | 1,469 |
| 64 | APOLIPOPROTEINE: Far More Than a Lipid Transport Protein | Annual Review of Genomics and Human Genetics | 2000 | 1,467 |
| 65 | Phylogenetic analysis. Models and estimation procedures | American Journal of Human Genetics | 1967 | 1,466 |
| 66 | miR-21-mediated tumor growth | Oncogene | 2007 | 1,459 |
| 67 | A NEWAPPROACH TODECODINGLIFE: Systems Biology | Annual Review of Genomics and Human Genetics | 2001 | 1,455 |
| 68 | Impact of mutant p53 functional properties onTP53mutation patterns and tumor phenotype: lessons from recent developments in the IARC TP53 database | Human Mutation | 2007 | 1,441 |
| 69 | A Unified Approach to Genotype Imputation and Haplotype-Phase Inference for Large Data Sets of Trios and Unrelated Individuals | American Journal of Human Genetics | 2009 | 1,441 |
| 70 | Mutation of human short tandem repeats | Human Molecular Genetics | 1993 | 1,426 |
| 71 | A Second Common Mutation in the Methylenetetrahydrofolate Reductase Gene: An Additional Risk Factor for Neural-Tube Defects? | American Journal of Human Genetics | 1998 | 1,413 |
| 72 | DNA methylation in cancer: too much, but also too little | Oncogene | 2002 | 1,390 |
| 73 | Molecular components of the mammalian circadian clock | Human Molecular Genetics | 2006 | 1,384 |
| 74 | Methods for Detecting Associations with Rare Variants for Common Diseases: Application to Analysis of Sequence Data | American Journal of Human Genetics | 2008 | 1,382 |
| 75 | Histone deacetylase inhibitors: molecular mechanisms of action | Oncogene | 2007 | 1,379 |
| 76 | Regulation of the G2/M transition by p53 | Oncogene | 2001 | 1,366 |
| 77 | Mitogen-activated protein kinases in apoptosis regulation | Oncogene | 2004 | 1,361 |
| 78 | Mutant presenilins specifically elevate the levels of the 42 residue β-amyloid peptide in vivo: evidence for augmentation of a 42-specific γ secretase | Human Molecular Genetics | 2004 | 1,350 |
| 79 | The Bcl-2 family: roles in cell survival and oncogenesis | Oncogene | 2003 | 1,342 |
| 80 | Are Rare Variants Responsible for Susceptibility to Complex Diseases? | American Journal of Human Genetics | 2001 | 1,336 |
| 81 | A Missense Single-Nucleotide Polymorphism in a Gene Encoding a Protein Tyrosine Phosphatase (PTPN22) Is Associated with Rheumatoid Arthritis | American Journal of Human Genetics | 2004 | 1,313 |
| 82 | Autophagy as a cell death and tumor suppressor mechanism | Oncogene | 2004 | 1,306 |
| 83 | Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation | American Journal of Human Genetics | 1992 | 1,290 |
| 84 | The role of cyclooxygenases in inflammation, cancer, and development | Oncogene | 1999 | 1,289 |
| 85 | Glycolysis inhibition for anticancer treatment | Oncogene | 2006 | 1,278 |
| 86 | BIBW2992, an irreversible EGFR/HER2 inhibitor highly effective in preclinical lung cancer models | Oncogene | 2008 | 1,272 |
| 87 | JNK signaling in apoptosis | Oncogene | 2008 | 1,259 |
| 88 | Control of apoptosis by p53 | Oncogene | 2003 | 1,256 |
| 89 | The EGF receptor family as targets for cancer therapy | Oncogene | 2000 | 1,251 |
| 90 | Differential regulation and properties of MAPKs | Oncogene | 2007 | 1,246 |
| 91 | 5-Azacytidine and 5-aza-2′-deoxycytidine as inhibitors of DNA methylation: mechanistic studies and their implications for cancer therapy | Oncogene | 2002 | 1,239 |
| 92 | Mitochondrial dynamics-fusion, fission, movement, and mitophagy-in neurodegenerative diseases | Human Molecular Genetics | 2009 | 1,235 |
| 93 | A Note on Exact Tests of Hardy-Weinberg Equilibrium | American Journal of Human Genetics | 2005 | 1,232 |
| 94 | Accounting for Decay of Linkage Disequilibrium in Haplotype Inference and Missing-Data Imputation | American Journal of Human Genetics | 2005 | 1,230 |
| 95 | Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC | Human Molecular Genetics | 1993 | 1,223 |
| 96 | LncRNA-mediated regulation of cell signaling in cancer | Oncogene | 2017 | 1,221 |
| 97 | A Mutation in the LDL Receptor–Related Protein 5 Gene Results in the Autosomal Dominant High–Bone-Mass Trait | American Journal of Human Genetics | 2002 | 1,196 |
| 98 | HGVS Recommendations for the Description of Sequence Variants: 2016 Update | Human Mutation | 2016 | 1,194 |
| 99 | Lysosomal membrane permeabilization in cell death | Oncogene | 2008 | 1,192 |
| 100 | Delineation of individual human chromosomes in metaphase and interphase cells by in situ suppression hybridization using recombinant DNA libraries | Human Genetics | 1988 | 1,185 |
